rs4547554
This variant is located in the NAT8 gene.
▶GWAS Catalog Trait Associations (15)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (15)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
N-acetylarginine measurement
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.58
p —
N 4,960
Large GWAS
European
N-acetylglutamine measurement
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.82
p —
N 4,909
Large GWAS
European
N-delta-acetylornithine measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele C
OR 1.13
p —
N 6,136
Large GWAS
European
N-acetylphenylalanine measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele C
OR 0.88
p 2.0e-283
N 6,136
Large GWAS
European
N-acetylleucine measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele C
OR 0.83
p 4.0e-254
N 6,136
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.48
p 1.0e-162
N 4,844
Large GWAS
European
serum metabolite level
Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele C
OR 0.83
p 1.0e-250
N 3,926
Large GWAS
Hispanic or Latin American
N-acetyl-2-aminooctanoate measurement
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.75
p 6.0e-210
N 4,912
Large GWAS
European
N-acetyltyrosine measurement
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.55
p 4.0e-149
N 4,909
Large GWAS
European
alliin measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.44
p 3.0e-81
N 5,390
Large GWAS
multi-ancestry
methionine sulfone measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele C
OR 0.45
p 4.0e-76
N 6,136
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.22
p 1.0e-50
N 4,960
Large GWAS
European
About NAT8
This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008]
View all NAT8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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